Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs

Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs

Females with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment. A survey was conducted at nine Italian FD centers to evaluate routine management of females with FD; results were discussed at...

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Main Authors: Antonino Tuttolomondo, Cristina Chimenti, Vittoria Cianci, Maurizio Gallieni, Chiara Lanzillo, Antonella La Russa, Giuseppe Limongelli, Renzo Mignani, Iacopo Olivotto, Federico Pieruzzi, Antonio Pisani
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
alpha-galactosidase A
enzyme replacement therapy
Fabry disease
female
genetic testing
heterozygote
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2025.1536114/full
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https://www.frontiersin.org/articles/10.3389/fcvm.2025.1536114/full

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